Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype

Kaba S., Dogan M., Bulan K., Demir N., Uner A., Bulut M. D., ...Daha Fazla

CLEFT PALATE-CRANIOFACIAL JOURNAL, cilt.53, sa.6, ss.732-735, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1597/15-032
  • Dergi Adı: CLEFT PALATE-CRANIOFACIAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.732-735
  • Van Yüzüncü Yıl Üniversitesi Adresli: Evet

Özet

We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition.